Gene mutation points to new way to fight diabetes, obesity, heart disease

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October 11, 2018

Gene mutation points to new way to fight diabetes, obesity, heart disease

A study primarily supported by the National Heart, Lung, and Blood Institute indicates that people with a gene mutation that slows the metabolism of sugar in the gut might have a lower risk of diabetes, obesity, heart failure, and even death. Scott D.

A study primarily supported by the National Heart, Lung, and Blood Institute indicates that people with a gene mutation that slows the metabolism of sugar in the gut might have a lower risk of diabetes, obesity, heart failure, and even death. Scott D. Solomon, MD, a professor of medicine at Harvard Medical School and a senior physician at Brigham and Women's Hospital in Boston, who led the research, says the study is the first to fully examine the link between mutations in the gene mainly responsible for absorbing glucose in the gut—SGLT-1, or sodium glucose co-transporter-1—and cardiometabolic disease. Researchers analyzed the relationship between SGLT-1 mutations and cardiometabolic disease using genetic data obtained from about 8,500 participants in the Atherosclerosis Risk in Communities study, a 25-year-long observational trial of atherosclerosis and cardiovascular risk factors in people living in four U.S. communities. The researchers found that about 6% of the subjects carried a mutation in SGLT-1 that causes limited impairment of glucose absorption, resulting in reduced incidence of type 2 diabetes, heart failure, and obesity. These individuals also had a lower mortality rate compared with those without the mutation, even after adjusting for dietary intake. The researchers warn that developing drugs to selectively block the SGLT-1 receptor could take years, and that clinical trials are still needed to determine if the drugs reduce the incidence of diabetes and heart failure and improve lifespan.